Metabolic mimics: The disorders of N-linked glycosylation

Marc C. Patterson

Research output: Contribution to journalReview article

17 Scopus citations

Abstract

N-linked glycosylation is essential for normal cellular function. Defects have now been described in eighteen genes that participate in the process. All give rise to complex multisystem diseases which, with a few exceptions, primarily involve the nervous system. Frequent features of these disorders include developmental delay, ataxia, seizures, stroke-like episodes, recurrent infections, coagulopathy and dysmorphism. Most cases can be detected by screening carbohydrate-deficient transferrin, but definitive diagnosis requires enzymatic and molecular confirmation, frequently in collaboration with a research glycobiologist.

Original languageEnglish (US)
Pages (from-to)144-151
Number of pages8
JournalSeminars in Pediatric Neurology
Volume12
Issue number3
DOIs
StatePublished - Sep 1 2005

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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